Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β‐globin gene cluster
Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β‐globin gene cluster
复制标题
由于 198 kb 缺失删除了完整的 β-珠蛋白基因簇，导致严重的胎儿和新生儿溶血性贫血
作者：
M. Verhovsek;N. Shah;Ibifiri Wilcox;S. Koenig;T. Barros;C. Thornburg;M. Steinberg;Hong‐yuan Luo;D. Chui
胎儿和新生儿溶血性贫血可由β珠蛋白基因簇的（γδβ）0-地中海贫血缺失引起。这些缺失中的许多还没有得到很好的表征，诊断测试也不容易获得，从而阻碍了携带者检测，家庭咨询和产前诊断。我们报告并定义了一个删除整个β珠蛋白基因簇的198 kb缺失，该基因簇在爱尔兰/苏格兰血统的多代家族成员中发现。先证者患有危及生命的胎儿和新生儿溶血性贫血，在1岁时消退。儿科血液癌症2012; 59：941-944。© 2012 Wiley Periodicals，Inc.
Fetal and neonatal hemolytic anemia can be caused by (γδβ)0‐thalassemia deletions of the β‐globin gene cluster. Many of these deletions have not been well characterized, and diagnostic tests are not readily available, thus hampering carrier detection, family counseling, and antenatal diagnosis. We report and define a 198 kb deletion removing the entire β‐globin gene cluster, which was found in members of a multigeneration family of Irish/Scottish descent. The proband had life‐threatening fetal and neonatal hemolytic anemia which subsided by 1 year of age. Pediatr Blood Cancer 2012; 59: 941–944. © 2012 Wiley Periodicals, Inc.
由整个β-珠蛋白簇的新缺失引起的新生儿溶血病。
DOI：
10.1172/jci111008
发表时间：
1983
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Pirastu,M;Kan,YW;Lin,CC;Baine,RM;Holbrook,CT
通讯作者：
Holbrook,CT